Contents 1 Presentation 2 Causes 2.1 Risk 3 Diagnosis 3.1 Differential diagnosis 4 Treatment 5 See also 6 References 7 External links Presentation [ edit ] Diagnosis of GP becomes clear when skin lesions progress to tense blisters during the second or third trimester. ... Systemic corticosteroid treatment, in contrast, does not substantially affect pregnancy outcomes, and its use for GP in pregnant women is justified. [5] GP typically reoccurs in subsequent pregnancies. [6] Passive transfer of the mother’s antibodies to the fetus causes some (about 10%) newborns to develop mild skin lesions, but these typically will resolve within weeks of parturition. [ citation needed ] Diagnosis [ edit ] Differential diagnosis [ edit ] GP often is confused with pruritic urticarial papules and plaques of pregnancy (PUPPP), especially if it occurs in a first pregnancy. ... Clinical and Experimental Dermatology . 37 (1): 1–5. doi : 10.1111/j.1365-2230.2011.04173.x . ... "Clinical experience in pemphigoid gestationis: report of 10 cases". J. Am. Acad. Dermatol . 55 (5): 823–8. doi : 10.1016/j.jaad.2006.07.015 .

Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder . ... Symptoms may improve at the end of pregnancy, but flares may occur during, or right after, delivery. While PG usually goes away on its own within weeks to months after delivery, it has been reported to persist for years in some cases. PG is caused by a woman's immune system producing autoantibodies and mistakenly attacking her own skin, but the trigger for autoantibody production is poorly understood.

Though it can affect people of any age, it mostly affects people in their 40s and 50s. [1] Contents 1 Types 2 Presentation 2.1 Associations 3 Causes 4 Diagnosis 4.1 Diagnostic criteria 5 Treatment 6 See also 7 References 8 External links Types [ edit ] Pyoderma gangrenosum There are two main types of pyoderma gangrenosum: [1] the 'typical' ulcerative form, which occurs in the legs an 'atypical' form that is more superficial and occurs in the hands and other parts of the body Other variations are: [4] Peristomal pyoderma gangrenosum comprises 15% of all cases of pyoderma Bullous pyoderma gangrenosum Pustular pyoderma gangrenosum [5] Vegetative pyoderma gangrenosum [6] Presentation [ edit ] Associations [ edit ] The following are conditions commonly associated with pyoderma gangrenosum: [7] Inflammatory bowel disease: Ulcerative colitis Crohn's disease Arthritides: Rheumatoid arthritis Seronegative arthritis Hematological disease: Myelocytic leukemia [8] Hairy cell leukemia Myelofibrosis Myeloid metaplasia Monoclonal gammopathy Autoinflammatory disease: Pyogenic sterile arthritis, and acne syndrome ( PAPA syndrome ) Causes [ edit ] Though the cause is not well understood, the disease is thought to be due to immune system dysfunction, and particularly improper functioning of neutrophils . ... It can also be part of a syndromes such as PAPA syndrome . [ citation needed ] One hallmark of pyoderma gangrenosum is pathergy , which is the appearance of new lesions at sites of trauma, including surgical wounds. [10] Diagnosis [ edit ] Diagnosis of PG is challenging owing to its variable presentation, clinical overlap with other conditions, association with several systemic diseases, and absence of defining histopathologic or laboratory findings. ... It has been shown that up to 39% of patients who initially received a diagnosis of PG have an alternative diagnosis. [11] In light of this, validated diagnostic criteria have recently been developed for ulcerative pyoderma gangrenosum. [12] Diagnostic criteria [ edit ] In addition to a biopsy demonstrating a neutrophilic infiltrate, patients must have at least 4 minor criteria to meet diagnostic criteria. [12] These criteria are based on histology, history, clinical examination and treatment. [ citation needed ] Histology: Exclusion of infection (including histologically indicated stains and tissue cultures) Pathergy (ulcer occurring at sites of trauma, with ulcer extending past area of trauma) Personal history of inflammatory bowel disease or inflammatory arthritis History of papule, pustule, or vesicle that rapidly ulcerated Clinical examination (or photographic evidence) of peripheral erythema, undermining border, and tenderness at site of ulceration Multiple ulcerations (at least 1 occurring on an anterior lower leg) Cribriform or “wrinkled paper” scar(s) at sites of healed ulcers Decrease in ulcer size within 1 mo of initiating immunosuppressive medication(s) Treatment [ edit ] First-line therapy for disseminated or localized instances of pyoderma gangrenosum is systemic treatment by corticosteroids and ciclosporin . ... "Tattoo related pyoderma/ectyma gangrenous as presenting feature of relapsed acute myeloid leukaemia: an exceptionally rare observation". Injury . 42 (5): 546–7. doi : 10.1016/j.injury.2010.08.014 . ... "Effective strategies for the management of pyoderma gangrenosum: a comprehensive review" . Acta Dermato-Venereologica . 95 (5): 525–31. doi : 10.2340/00015555-2008 .

Overview Pyoderma gangrenosum (pie-o-DUR-muh gang-ruh-NO-sum) is a rare condition that causes large, painful sores (ulcers) to develop on your skin, most often on your legs. The exact causes of pyoderma gangrenosum are unknown, but it appears to be a disorder of the immune system. People who have certain underlying conditions, such as inflammatory bowel disease or arthritis, are at higher risk of pyoderma gangrenosum. Pyoderma gangrenosum ulcers can develop quickly. They usually clear up with treatment, but scarring and recurrences are common. Symptoms Pyoderma gangrenosum usually starts with a small, red bump on your skin, which may resemble a spider bite.

Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis , Crohn's disease , polyarthritis (an inflammation of several joints together), gammopathy , vasculitis, leukemia, and other conditions. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100,000 people. Pyoderma gangrenosum belongs to a group of autoinflammatory skin diseases called neutrophilic dermatoses . Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections.

Typically associated with a rash called necrolytic migratory erythema , weight loss, and mild diabetes mellitus, most people with glucagonoma contract it spontaneously. [1] However, about 10% of cases are associated with multiple endocrine neoplasia type 1 (MEN-1) syndrome. [1] Contents 1 Causes 2 Mechanism 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Causes [ edit ] Although the cause of glucagonoma is unknown, some genetic factors may lead to the condition. A family history of multiple endocrine neoplasia type 1 (MEN1) is a risk factor. [1] Additionally, those with Mahvash disease have an increased risk for glucagonoma, as glucagon receptor gene (GCGR) is mutated. [2] Mechanism [ edit ] Glucagonoma results from the overproduction of glucagon , a peptide hormone located in the pancreatic alpha cells . [3] Classic symptoms include, but are not limited to, necrolytic migratory erythema (NME), diabetes mellitus, and weight loss. [3] NME presents in about 70% of cases of glucagonoma, [4] and is characterized by erythematous lesions over the distal extremities and the groin area. [3] NME has occasionally been observed in people who do not have glucagonoma. [2] People who develop glucagonoma from Mahvash disease also do not develop NME, implying that working glucagon receptors are needed in order for NME to be present in a person. [3] Weight loss, the most commonly associated effect with glucagonoma, results from the glucagon hormone, which prevents the uptake of glucose by somatic cells. [3] Diabetes is not present in all cases of glucagonoma, [3] but does frequently result from the insulin and glucagon imbalance. [5] Diagnosis [ edit ] The presence of glucagonoma syndrome, the symptoms that accompany the pancreatic tumor, as well as elevated levels of glucagon in the blood, are what is used to diagnose glucagonoma. [6] When a person presents with a blood glucagon concentration greater than 500 mg/mL along with the glucagonoma syndrome, a diagnosis can be established. [3] It is important to note that not all cases of hyperglucagonemia will lead to a diagnosis of glucagonoma. [3] Elevated blood levels of glucagon are associated with other disorders like pancreatitis and kidney failure . [3] About 60% of people diagnosed with glucagonoma are women. [7] Most of those that are diagnosed are between 45–60 years of age. [7] Treatment [ edit ] People who are diagnosed with sporadic glucagonoma often have an increased mortality rate compared to those with MEN1, as the latter group will go to the doctor for periodic visits. [4] People whose tumor have metastasized cannot easily be treated as the tumor is resistant to chemotherapy. [4] The only curative therapy for glucagonoma is surgery, and even this is not always successful. [6] [4] Heightened glucagon secretion can be treated with the administration of octreotide , a somatostatin analog, which inhibits the release of glucagon. [8] Doxorubicin and streptozotocin have also been used successfully to selectively damage alpha cells of the pancreatic islets. ... "The glucagonoma syndrome and necrolytic migratory erythema: a clinical review" . Eur. J. Endocrinol . 151 (5): 531–7. doi : 10.1530/eje.0.1510531 . ... Journal of Hepato-Biliary-Pancreatic Surgery . 10 (1): 101–5. doi : 10.1007/s10534-002-0791-y .

A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.

Clinical Features Mulvihill et al. (1977) described a family in which 3 of 9 children developed typical osteosarcoma. Limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia were present in the surviving child with osteosarcoma, several of her sibs and her father. The authors suggested that this is an autosomal dominant syndrome with impaired regulation of bone and bone marrow development. Oncology - Osteosarcoma Inheritance - Autosomal dominant Limbs - Clinodactyly - Absent digital ray in foot - Radioulnar synostosis Heme - Macrocytosis without anemia ▲ Close

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Contents 1 Cause 2 Diagnosis 3 Society 4 See also 5 References 6 External links Cause [ edit ] The underlying genetics are uncertain. [2] Diagnosis [ edit ] Among the medical signs are dacryocystitis , seizures , intellectual disability , and paralysis , each of which is a complication resulting from the diminutive foramina.

Clinical Features Cranial and facial hyperostosis results in a characteristic clinical and radiographic appearance. The diaphyses of the bones are generally expanded. Halliday (1949) and Stransky et al. (1962) reported isolated cases with similar findings. Facial and cranial thickening and distortion are particularly striking in this form. Most cases have been mentally retarded. Unlike the situation in the craniometaphyseal dysplasias (e.g., 218400), the long bones do not show metaphyseal flaring but show diaphyseal endostosis and are shaped like a policeman's nightstick. Joseph et al. (1958), who first suggested the designation of progressive craniodiaphyseal dysplasia, described a patient with a picture they considered identical to that described by Halliday (1949).